Special

HsaEX6042184 @ hg19

Exon Skipping

Gene
Description
periplakin [Source:HGNC Symbol;Acc:9273]
Coordinates
chr16:4945262-4947771:-
Coord C1 exon
chr16:4947676-4947771
Coord A exon
chr16:4945595-4945717
Coord C2 exon
chr16:4945262-4945408
Length
123 bp
Sequences
Splice sites
3' ss Seq
AGAGCCACCTTCTCCCCTAGTTT
3' ss Score
5.15
5' ss Seq
GATGTGAGC
5' ss Score
4.72
Exon sequences
Seq C1 exon
GCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAG
Seq A exon
TTTCACGAAGACGTGAAGGACGCTCAGGAGCTGCTGCGCAAGGTGGACTCGGACCTGAACCAGAAGTATGGCCCTGACTTCAAGGACCGGTACCAGATTGAGCTGCTGCTGCGGGAGCTGGAT
Seq C2 exon
GACCAGGAGAAGGTGCTGGACAAGTATGAGGACGTGGTGCAGGGGCTGCAGAAGCGAGGCCAGCAGGTGGTGCCCCTCAAGTACCGCCGGGAGACTCCGCTCAAGCCCATCCCCGTGGAGGCACTCTGTGACTTTGAGGGGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118898-'8-9,'8-8,9-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.031 A=0.024 C2=0.000
Domain overlap (PFAM):

C1:
PF0043516=Spectrin=PD(22.1=71.9),PF123293=TMF_DNA_bd=PD(2.8=3.1),PF0043516=Spectrin=PU(5.1=12.5)
A:
PF0043516=Spectrin=FE(50.6=100)
C2:
PF0043516=Spectrin=PD(40.5=65.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(PPL)
Zebrafish
(danRer10)
HIGH PSI
(ppl)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCACATGGAGGCTGTG
R:
TGCTCCCCCTCAAAGTCACAG
Band lengths:
242-365
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains